Related gene-specific medical variations for Gene (Select 23639) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245527	NC_000008.10:g.(?_133584554)_(133584748_?)dup	DNAAF11	Duplication	Primary ciliary dyskinesia 19	GUncertain significance
Select item 3245525	NC_000008.10:g.(?_133595921)_(133596046_?)dup	DNAAF11	Duplication	Primary ciliary dyskinesia 19	GLikely pathogenic
Select item 636351	NM_012472.6(DNAAF11):c.947A>C (p.Gln316Pro)	DNAAF11 (Q316P +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 260280	NM_012472.6(DNAAF11):c.915-8A>G	DNAAF11	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 260270	NM_012472.6(DNAAF11):c.1197G>A (p.Ser399=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign

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